Noonan syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul
Overview
The most important part of the patient history is a detailed family history of cardio-facial syndromes associated with short stature and developmental delays. Other important questions include history of bleeding tendency, feeding difficulty, and developmental delays.
History and Symptoms
Patients with Noonan syndrome have different presentations due to the variable expression of the disorder, although certain findings on history are common in most cases:[1][2][3][4]
- Family history is crucial in patients with suspicion of Noonan syndrome as the disease is transmitted by autosomal dominant inheritance. Family members with cardio-facial congenital disorders could aid in establishing the diagnosis.
- Feeding difficulty and failure to thrive is common in patients with Noonan syndrome especially in the first 15 months. Twenty five percent of patients have prolonged feeding time, recurrent vomiting, or poor suck and often require tube feeding.
- Bleeding diathesis and easy bruisability can be seen in 65% of patients.
- Some form of social, academic, or emotional impairment is usually present in approximately one third of patients.
References
- ↑ "Erratum". Therap Adv Gastroenterol. 5 (5): 371. 2012. doi:10.1177/1756283X10363751. PMC 3437532. PMID 22973420.
- ↑ Mendez HM, Opitz JM (1985). "Noonan syndrome: a review". Am J Med Genet. 21 (3): 493–506. doi:10.1002/ajmg.1320210312. PMID 3895929.
- ↑ Ranke MB,
Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JA (1988). "Noonan syndrome: growth and clinical manifestations in 144 cases". Eur J Ped. 148 (3): 220–7. doi:10.1007/BF00441408. line feed character in
|author=at position 10 (help) - ↑ Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
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